Free Mutation: Results

Dear Colleague,

the interpretation you requested is ready:

Gene SLC6A1
Mutation (gDNA level) chr3-11059037-G-A
Mutation (cDNA level) c.140G>A
Reference sequence NM_003042.3
Mutation (protein level) W47* (p.Trp47*)
Exon location exon 3 of 16
Amino acid location aa 47 of 600
Associated phenotype Myoclonic-atonic epilepsy
Interepretation very likely pathogenic
Notes Pathogenic mutations in this gene have been postulated to result in loss of function. This mutation is likely to result in protein truncation or protein loss due to nonsense-mediated messenger decay.

References: OMIM 616421

 

Disclaimer: the free mutation interpretation service is complimentary and offered on a research basis only. Appropriate interpretation is possible only in presence of patient's detailed clinical information. Because of this, the above interpretation may  be correct, partially incorrect or even completely wrong. Breda Genetics is not liable for any misuse of the results (e.g. if the results are used for clinical purposes).

Posted in Free Mutation.

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